R9I (p.Arg9Ile) variant of NSD1 (Q96L73)
R9I (p.Arg9Ile) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R9I (p.Arg9Ile) variant details
- p.Arg9Ile
- rs1756203781
- ClinGen CA362290026
- ClinVar RCV003232581
- ClinVar RCV006470437
- Conflicting interpretations
- not provided; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.60
- CADD 29.70
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Sotos syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)